Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR

Xu, Y; Xiao, B; Liu, Y; Qu, XX; Dai, MY; Ying, XM; Jiang, WT; Zhang, JM; Liu, XQ; Chen, YW; Ji, X

Chen, YW; Ji, X (corresponding author), Shanghai Jiao Tong Univ, Shanghai Inst Pediat Res, Dept Genet Counseling, Sch Med,Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China.

NEUROMUSCULAR DISORDERS, 2020; 30 (3): 219

Abstract

Spinal muscular atrophy (SMA) is caused by homozygous deletions of the SMN1 gene in approximately 95% of patients. The remaining 5% of patients with S......

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